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Center for Nephrology and Metabolic Disorders
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Low affinity immunoglobulin gamma Fc region receptor III-A

The FCGR3A gene encodes a receptor for the Fc fragment of IgG. As binding to this receptor is essential to develop a proper immune response, mutations in that gene cause autosomal recessive immunodeficiency type 20.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Immunodeficiency 20
FCGR3A

References:

1.

Jawahar S et al. (1996) Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II).

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2.

Wang TT et al. (2017) IgG antibodies to dengue enhanced for FcγRIIIA binding determine disease severity.

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3.

Machado LR et al. (2012) Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection.

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4.

Robinson JI et. al. (2012) Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis.

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5.

Pinheiro da Silva F et al. (2007) CD16 promotes Escherichia coli sepsis through an FcR gamma inhibitory pathway that prevents phagocytosis and facilitates inflammation.

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6.

Bodman-Smith MD et al. (2000) Decreased expression of FcgammaRIII (CD16) by gammadelta T cells in patients with rheumatoid arthritis.

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7.

Koene HR et al. (1997) Fc gammaRIIIa-158V/F polymorphism influences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype.

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8.

de Haas M et al. (1996) A triallelic Fc gamma receptor type IIIA polymorphism influences the binding of human IgG by NK cell Fc gamma RIIIa.

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9.

Gessner JE et al. (1995) The human low affinity immunoglobulin G Fc receptor III-A and III-B genes. Molecular characterization of the promoter regions.

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10.

Ravetch JV et al. (1989) Alternative membrane forms of Fc gamma RIII(CD16) on human natural killer cells and neutrophils. Cell type-specific expression of two genes that differ in single nucleotide substitutions.

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11.

Le Coniat M et al. (1990) The human genes for the alpha and gamma subunits of the mast cell receptor for immunoglobulin E are located on human chromosome band 1q23.

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12.

Anderson P et al. (1990) Fc gamma receptor type III (CD16) is included in the zeta NK receptor complex expressed by human natural killer cells.

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13.

Grier JT et al. (2012) Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity.

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14.

de Vries E et al. (1996) Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections.

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15.

Moraru M et al. (2012) Host genetic factors in susceptibility to herpes simplex type 1 virus infection: contribution of polymorphic genes at the interface of innate and adaptive immunity.

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16.

NCBI article

NCBI 2214 external link
17.

OMIM.ORG article

Omim 146740 external link
Update: Aug. 14, 2020
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